Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 2

Results: 8

FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 2, p. 182, doi. 10.1093/hmg/ddad175

By:

Engquist, Elise N;
Greco, Anna;
Joosten, Leo A B;
Engelen, Baziel G M van;
Zammit, Peter S;
Banerji, Christopher R S

Publication type:

Article

Novel insight into the etiology of ischemic stroke gained by integrative multiome-wide association study.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 2, p. 170, doi. 10.1093/hmg/ddad174

By:

Jung, Junghyun;
Lu, Zeyun;
Smith, Adam de;
Mancuso, Nicholas

Publication type:

Article

CYP2A6 associates with respiratory disease risk and younger age of diagnosis: a phenome-wide association Mendelian Randomization study.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 2, p. 198, doi. 10.1093/hmg/ddad172

By:

Giratallah, Haidy;
Chenoweth, Meghan J;
Pouget, Jennie G;
El-Boraie, Ahmed;
Alsaafin, Alaa;
Lerman, Caryn;
Knight, Jo;
Tyndale, Rachel F

Publication type:

Article

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 2, p. 150, doi. 10.1093/hmg/ddad171

By:

Derrick, Christopher J;
Szenker-Ravi, Emmanuelle;
Santos-Ledo, Adrian;
Alqahtani, Ahlam;
Yusof, Amirah;
Eley, Lorraine;
Coleman, Alistair H L;
Tohari, Sumanty;
Ng, Alvin Yu-Jin;
Venkatesh, Byrappa;
Alharby, Essa;
Mansard, Luke;
Bonnet-Dupeyron, Marie-Noelle;
Roux, Anne-Francoise;
Vaché, Christel;
Roume, Joëlle;
Bouvagnet, Patrice;
Almontashiri, Naif A M;
Henderson, Deborah J;
Reversade, Bruno

Publication type:

Article

Dysregulation of alternative splicing in spinocerebellar ataxia type 1.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 2, p. 138, doi. 10.1093/hmg/ddad170

By:

Olmos, Victor;
Thompson, Evrett N;
Gogia, Neha;
Luttik, Kimberly;
Veeranki, Vaishnavi;
Ni, Luhan;
Sim, Serena;
Chen, Kelly;
Krause, Diane S;
Lim, Janghoo

Publication type:

Article

Multi-omics analysis reveals the potential pathogenesis and therapeutic targets of diabetic kidney disease.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 2, p. 122, doi. 10.1093/hmg/ddad166

By:

Wei, Lan;
Gao, Jingjing;
Wang, Liangzhi;
Tao, Qianru;
Tu, Chao

Publication type:

Article

Translation reinitiation in c.453delC frameshift mutation of KCNH2 producing functional hERG K<sup>+</sup> channels with mild dominant negative effect in the heterozygote patient-derived iPSC cardiomyocytes.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 2, p. 110, doi. 10.1093/hmg/ddad165

By:

Park, Na Kyeong;
Park, Soon-Jung;
Park, Yun-Gwi;
Moon, Sung-Hwan;
Woo, JooHan;
Kim, Hyun Jong;
Kim, Sung Joon;
Choi, Seong Woo

Publication type:

Article

Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (Na<sub>V</sub>1.7).

Published in:

Human Molecular Genetics, 2024, v. 33, n. 2, p. 103, doi. 10.1093/hmg/ddad152

By:

Deuis, Jennifer R;
Kumble, Smitha;
Keramidas, Angelo;
Ragnarsson, Lotten;
Simons, Cas;
Pais, Lynn;
White, Susan M;
Vetter, Irina

Publication type:

Article